"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "JTB"[ge - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 775606	NM_006694.4(JTB):c.46C>T (p.Leu16Phe)	JTB (L16F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3247808	NC_000001.10:g.(?_153782653)_(154580482_?)dup	ADAR, AQP10 +20 more	Duplication	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2426580	NC_000001.10:g.(?_153782653)_(153964569_?)del	CREB3L4, CRTC2 +6 more	Deletion	not provided	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CKS1B, PRCC +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance

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